Rare Disease Library

Osteogenesis imperfecta

Brittle bone disease · Glass bone disease

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Bourneville disease · PKDTS

BENTA disease

B-cell expansion with NF-kB and T-cell anergy disease

Best vitelliform macular dystrophy

BMD · BVMD

Brill-Zinsser disease

Brill disease · Recrudescent typhus

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

Erythema palmare hereditarium

Lane disease · Red palms disease

Gorham-Stout disease

Gorham disease · Gorham syndrome

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

Osteopetrosis with renal tubular acidosis

Carbonic anhydrase 2 deficiency · Guibaud-Vainsel syndrome

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

Rare bone disease

Rare genetic bone disease

Senior-Boichis syndrome

Boichis disease · Nephronophthisis-hepatic fibrosis syndrome

Tuberous sclerosis complex

Bourneville disease · Bourneville syndrome